Varaico: Literature-Extracted Genetic Variants

SCN7A

211 papers

RefSeq Summary

This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusi...

Pfam Domains

Ion_transaa 117–405UCSCIon transport protein

Ion_transaa 504–738UCSCIon transport protein

Na_trans_assocaa 742–929UCSCSodium ion transport-associated

Ion_transaa 933–1203UCSCIon transport protein

Ion_transaa 1250–1507UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 7

HGNC Previous Symbol

SCN6A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002976.4

p.M1424I

c.4272G>C

Surrounding Variants

1 paper

NM_002976.4

p.M1424I

c.4272G>T

1 paper

NM_002976.4

p.M1424I

c.4272G>A

1 paper

NM_002976.4

p.N1422K

c.4266C>G

1 paper

NM_002976.4

p.N1422K

c.4266C>A

1 paper

NM_002976.4

p.I1432L

c.4294A>T

1 paper

NM_002976.4

p.I1432L

c.4294A>C

1 paper

NM_002976.4

p.G1435V

c.4304G>T

1 paper

NM_002976.4

p.G1438R

c.4312G>C

1 paper

NM_002976.4

p.G1438R

c.4312G>A

1 paper

NM_002976.4

p.Y1404C

c.4211A>G

1 paper

NM_002976.4

p.S1446N

c.4337G>A

1 paper

NM_002976.4

p.T1460S

c.4378A>T